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Article

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.

European journal of medical genetics - 1 Nov 2022

Zhu Ze-Yu, Li Zi-Yi, Zhang Chao, Liu Xiao-Li, Tian Wo-Tu, Cao Li

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative disorders, which is characterized by the presence of progressive spasticity and weakness in bilateral lower limbs. Spastic paraplegia 62 (SPG62) caused by the endoplasmic reticulum lipid raft associated 1 (ERLIN1) gene mutation is a rare subtype of HSP. Herein, we report the case of the first Chinese SPG62 patient, explore the potential...

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PMID: 36100157
DOI: 10.1016/j.ejmg.2022.104608

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